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rs119482081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119482081(A;A)
Make rs119482081(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position92080045
GeneSPTLC1
is asnp
is mentioned by
dbSNPrs119482081
ebirs119482081
HLIrs119482081
Exacrs119482081
Varsomers119482081
Maprs119482081
PheGenIrs119482081
hapmaprs119482081
1000 genomesrs119482081
hgdprs119482081
ensemblrs119482081
gopubmedrs119482081
geneviewrs119482081
scholarrs119482081
googlers119482081
pharmgkbrs119482081
gwascentralrs119482081
openSNPrs119482081
23andMers119482081
23andMe allrs119482081
SNP Nexus

SNPshotrs119482081
SNPdbers119482081
MSV3drs119482081
GWAS Ctlgrs119482081
Max Magnitude0
OMIM605712
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119482081(A;A)
Alt rs119482081(A;A)
Reference rs119482081(G;G)
Significance Pathogenic
Disease Neuropathy hereditary sensory and autonomic type 1
Variation info
Gene SPTLC1
CLNDBN Neuropathy hereditary sensory and autonomic type 1
Reversed 1
HGVS NC_000009.11:g.94842327C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005067.2,